rs1057517400

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GCAA;GCAA)	0	common in clinvar

Make rs1057517400(-;-)

Make rs1057517400(-;GCAA)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

64758326

Gene

PYGM

is a	snp
is	mentioned by
dbSNP	rs1057517400
dbSNP (classic)	rs1057517400
ClinGen	rs1057517400
ebi	rs1057517400
HLI	rs1057517400
Exac	rs1057517400
Gnomad	rs1057517400
Varsome	rs1057517400
LitVar	rs1057517400
Map	rs1057517400
PheGenI	rs1057517400
Biobank	rs1057517400
1000 genomes	rs1057517400
hgdp	rs1057517400
ensembl	rs1057517400
geneview	rs1057517400
scholar	rs1057517400
google	rs1057517400
pharmgkb	rs1057517400
gwascentral	rs1057517400
openSNP	rs1057517400
23andMe	rs1057517400
SNPshot	rs1057517400
SNPdbe	rs1057517400
MSV3d	rs1057517400
GWAS Ctlg	rs1057517400

Max Magnitude

0

ClinVar
Risk	rs1057517400(-;-)
Alt	rs1057517400(-;-)
Reference	Rs1057517400(GCAA;GCAA)
Significance	Probable-Pathogenic
Disease	Glycogen storage disease
Variation	info
Gene	PYGM
CLNDBN	Glycogen storage disease, type V
Reversed	1
HGVS	NC_000011.9:g.64525798_64525801delTTGC
CLNSRC
CLNACC	RCV000411763.1,